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What are the signs and symptoms of Hereditary leiomyomatosis and renal cell cancer?

Signs and symptoms of hereditary leiomyomatosis and renal cell cancer (HLRCC) typically begin in adulthood at an average age of 25. The skin growths (cutaneous leiomyomata) appear as skin-colored or light brown bumps on the torso and extremities, and occasionally on the face. They usually increase in size and number with age. They may be more sensitive than the surrounding skin and be painful. Uterine leiomyomata (fibroids) also occur in almost all affected women and tend to be large and numerous. Most women with these have irregular or heavy periods and pelvic pain. A renal tumor occurs in about 10% to 16% of affected individuals (at an average age of 44 years) and may cause blood in the urine, lower back pain, and a palpable mass. Some people with renal cell cancer have no symptoms until the cancer is advanced.[1][2]

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary leiomyomatosis and renal cell cancer.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Abnormality of the musculature

90%

Neoplasm of the skin

90%

Pruritus

50%

Cataract

7.5%

Esophageal neoplasm

7.5%

Uterine neoplasm

7.5%

Vaginal neoplasm

7.5%

Cutaneous leiomyosarcoma

5%

Autosomal dominant inheritance

-

Cutaneous leiomyoma

-

Decreased fumarate hydratase activity

-

Incomplete penetrance

-

Multiple cutaneous leiomyomas

-

Renal cell carcinoma

-

Uterine leiomyoma

-

Uterine leiomyosarcoma

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.